Canonical Allele Identifier: CA375644795

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 477934
• ClinVar RCV Id: RCV000552023
• dbSNP Id: rs1554727837
• gnomAD v4: 9-136504862-G-A
• MyVariant Identifiers: chr9:g.139399314G>A (hg19) ; chr9:g.136504862G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504862G>A , CM000671.2:g.136504862G>A	GRCh38
NC_000009.11:g.139399314G>A , CM000671.1:g.139399314G>A	GRCh37
NC_000009.10:g.138519135G>A	NCBI36
NG_007458.1:g.45925C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2636C>T
ENST00000651671.1:c.4829C>T MANE Select	ENSP00000498587.1:p.Ala1610Val
ENST00000679595.1:c.4829C>T	ENSP00000506241.1:p.Ala1610Val
ENST00000680133.1:c.4715C>T	ENSP00000505319.1:p.Ala1572Val
ENST00000680218.1:c.4709C>T	ENSP00000505339.1:p.Ala1570Val
ENST00000680668.1:c.4715C>T	ENSP00000506336.1:p.Ala1572Val
ENST00000680778.1:c.2426C>T	ENSP00000506033.1:p.Ala809Val
ENST00000680924.1:c.*2229C>T	ENSP00000506031.1:n.*2229C>T
ENST00000681135.1:c.*2438C>T	ENSP00000506636.1:n.*2438C>T
ENST00000681298.1:n.1642C>T
ENST00000681454.1:c.*4065C>T	ENSP00000505763.1:n.*4065C>T
ENST00000277541.6:c.4829C>T	ENSP00000277541.6:p.Ala1610Val
NM_017617.3:c.4829C>T	NP_060087.3:p.Ala1610Val
XM_011518717.1:c.4130C>T	XP_011517019.1:p.Ala1377Val
NM_017617.5:c.4829C>T MANE Select	NP_060087.3:p.Ala1610Val
XM_011518717.2:c.4106C>T	XP_011517019.2:p.Ala1369Val